Autoinflammatory and autoimmune diseases are immune system disorders that result in self-directed inflammation.
Problems in different pathways of the immune system cause these syndromes.
The goal of treatment is to block the inflammatory pathway activated in each disease.
Our immune system fights off invading pathogens to protect us against infection and other diseases. To do so, it relies on different cellular pathways to create a response. But too much activation of any pathway causes immune system disorders.
Abnormalities in an immune system pathway cause autoinflammatory and autoimmune diseases. They both cause repeated attacks of self-directed inflammation. In other words, external triggers don’t cause the inflammation. Autoinflammatory diseases are due to hyperactivation of the innate immune system. Autoimmune disease results from abnormalities of the adaptive immune system. We’ll explain these terms below.
The innate immune system is the body’s first line of defense. It’s the immunity that you’re born with. It quickly responds to infections and other danger signals. The innate immune response isn’t directed toward a specific pathogen. Instead, it mounts the same inflammatory response to all invading pathogens. Problems in this pathway cause autoinflammatory disease.
But the adaptive immune response is more specific. Adaptive immunity is sometimes called acquired immunity. That's because it refers to how your body adapts to specific pathogens over time. It targets specific pathogens or other danger signals. Different immune cells — including B cells and T cells — are key players in this response. B cells produce Y-shaped proteins — antibodies — in response to pathogens. These antibodies help to clear infections.
Autoimmune disease happens when the adaptive immune response sees your own tissues as foreign. Antibodies then develop against your own body. These are called autoantibodies. These autoantibodies are the hallmark of autoimmune disease.
Autoinflammatory and autoimmune disease cause repeated flares of inflammation. Your healthcare provider may suspect them when you have symptoms of inflammation without an obvious cause. The severity of inflammation can range from mild to debilitating in either disorder. Both syndromes may cause similar symptoms that affect different organ systems. Symptoms include:
Muscle and joint swelling
Shortness of breath
Enlarged lymph nodes
The following features distinguish autoinflammatory diseases:
Typical onset in early childhood
Recurrent episodes of fever
Predictable symptom pattern during each episode (e.g. the length of fever and body parts affected are similar each time)
Strong family history of similar symptoms
Features of autoimmune disorders include:
Typical onset in middle age (it’s less common in childhood)
More common in people with female anatomy
Tends to run in families
Episodic nature with flares (worsening symptoms) and remissions
Your healthcare provider may order tests to confirm the diagnosis. These may include the following:
Both diseases can cause increased levels of inflammatory proteins during flares.
Autoantibody testing is negative in autoinflammatory syndromes. But it’s positive in autoimmune disease.
A suspected autoinflammatory disease usually requires genetic testing to confirm.
Imaging studies or even a biopsy of affected tissues might be needed in some cases.
Most autoinflammatory syndromes are rare. Periodic fever syndromes are the most well-known autoinflammatory diseases. They cause episodes of fever and other symptoms at varying intervals in children. Examples include:
Familial Mediterranean ever: symptoms include fever, chest pain, abdominal pain, and joint pain
Periodic fever with aphthous stomatitis, pharyngitis, and adenitis: symptoms include fever, mouth ulcers, sore throat, and swollen glands
Cryopyrin associated periodic syndromes: symptoms include fever, joint pain, rash, and red eyes
Tumor necrosis factor receptor-1 associated periodic syndrome: symptoms include fever, rash, bone/joint pain, and headache
There are more than 80 different autoimmune diseases identified to date. These may cause either localized or widespread inflammation. Examples of common autoimmune diseases that affect multiple organs include:
Systemic lupus erythematosus: This can cause rashes, joint pain, and kidney or other organ damage.
Rheumatoid arthritis: This mainly causes joint pain and swelling, but it can also affect other organs.
Some autoimmune diseases are localized. That means they involve only selected tissues and organs. Examples include:
Type 1 diabetes: autoantibodies only attack the pancreas
Thyroid diseases: autoantibodies target the thyroid gland (e.g. Hashimoto’s thyroiditis and Graves’ disease)
Both autoinflammatory and autoimmune conditions range in severity from mild to life-threatening. Sometimes they cause only minor symptoms that don’t need aggressive or invasive treatment. But other forms of autoinflammatory and autoimmune disease can be more severe. They can cause permanent organ damage or even death. The disease course may also change in severity over time for the same person.
Autoinflammatory and autoimmune diseases are usually chronic. There’s no cure. But here’s the good news: Treatments are available. The goal of treatment is to block the inflammatory pathway activated in each disease. So the medication you may use depends on which inflammatory pathway is affected.
Various medication classes may be used alone or in combination to treat both disorders. These include:
Medications that suppress your immune system
Nonsteroidal anti-inflammatory drugs (NSAIDs)
Other medications can treat specific organ involvement in both autoinflammatory and autoimmune disease. For instance, thyroid hormone replacement often treats autoimmune conditions of the thyroid gland.
There are several specialists who diagnose and treat autoimmune disease. Which one you see depends on the type of autoimmunity you have. It also depends on the part of your body that’s affected. For instance, a rheumatologist treats diseases such as rheumatoid arthritis with joint symptoms. And an endocrinologist treats autoimmune thyroid conditions and diabetes.
A genetic mutation that activates the innate immune system usually causes autoinflammatory diseases. Diet shouldn’t affect this genetic mutation. So providers don’t routinely recommend dietary changes for the management of autoinflammatory disease.
There isn’t an established link between diet and autoimmune disease. So providers don’t routinely recommend dietary changes as treatment for autoimmune conditions. That said, celiac disease is different. It’s an autoimmune disease that’s triggered by gluten, and it damages the lining of the gut. A gluten-free diet can treat celiac disease by removing the trigger.
Some nutrients and other parts of the diet may have anti-inflammatory effects. These effects may help in autoimmune and autoinflammatory disease. Diet can also affect your gut bacteria, or microbiome, which is closely linked with our immune system. Some animal studies have shown that diet changes can affect these diseases. These diet changes include adding probiotics or removing high calorie and processed foods. But these strategies haven’t been investigated in large human studies. So we still aren’t sure about the exact effect of dietary adjustments.
Autoinflammatory and autoimmune diseases both cause inflammation directed against your own body. Disorders of the innate immune system cause autoinflammatory disease. By contrast, disorders of the adaptive immune system cause autoimmune disease. Treatment focuses on curbing the overactivated inflammatory pathways in these conditions.
Alberts, B., et al. (2002). Chapter 24: The adaptive immune system. Molecular Biology of the Cell. 4th edition.
American Academy of Allergy, Asthma and Immunology. (n.d.). About allergists / immunologists.
American Association of Clinical Endocrinology. (n.d.). What is an endocrinologist?
American College of Rheumatology. (2019). Tumor necrosis factor receptor associated periodic syndrome (TRAPS) (pediatric).
American College of Rheumatology. (2021). Cryopyrin-associated autoinflammatory syndromes (CAPS).
American College of Rheumatology. (2021). Familial Mediterranean fever.
American College of Rheumatology. (2021). Periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA) (pediatric).
American College of Rheumatology. (2021). What is a rheumatologist?
Arakelyan, A., et al. (2017). Autoimmunity and autoinflammation: A systems view on signaling pathway dysregulation profiles. PLoS One.
Celiac Disease Foundation. (n.d.). Gluten-free foods.
De Luca, F., et al. (2019). The microbiome in autoimmune diseases. Clinical and Experimental Immunology.
Islam, M. A., et al. (2020). Immunomodulatory effects of diet and nutrients in systemic lupus erythematosus (SLE): A systematic review. Frontiers in Immunology.
Lerner, A., et al. (2015). Changes in intestinal tight junction permeability associated with industrial food additives explain the rising incidence of autoimmune disease. Autoimmunity Reviews.
MedlinePlus. (2022). Immune response.
Testing.com. (2021). Autoantibodies.
T. H. Chan School of Public Health. (n.d.). The microbiome. Harvard University.